ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829982768
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64868
ClinVar RCV Id:
RCV000055068
RCV000469641
RCV000563588
RCV001551734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Val1630Ile
CA021497
NM_021055.3:c.4888G>A